Identification of two HEXA mutations causing infantile-onset Tay-Sachs disease in the Persian population.

doi:10.1038/jhg.2011.78

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Article

Identification of two HEXA mutations causing infantile-onset Tay-Sachs disease in the Persian population.

Journal of human genetics - 1 Sept 2011

Haghighi Alireza, Rezazadeh Jamileh, Shadmehri Azam Ahmadi, Haghighi Amirreza, Kornreich Ruth, Desnick Robert J

Abstract excerpt

The β-hexosaminidase A (HEXA) mutations in the first reported cases of infantile Tay-Sachs disease in the Persian population were identified in two unrelated consanguineous families. The clinical diagnoses of the affected infants were confirmed by their markedly deficient levels of HEXA activity in plasma or peripheral leukocytes. The specific causative mutation in each family was determined by sequencing the...

Topics

Adult
Alleles
Child, Preschool
Codon
Codon, Nonsense
Consanguinity
DNA Mutational Analysis
Female
Genetic Predisposition to Disease
Humans
Infant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Iran

Male

Mutation, Missense

Polymerase Chain Reaction

Tay-Sachs Disease

beta-Hexosaminidase alpha Chain

Source

Open in PubMed

Identifiers

PMID: 21796138
DOI: 10.1038/jhg.2011.78

Genes

HEXA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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